ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764956
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
451567
ClinVar RCV:
RCV000550765
RCV001274454
RCV001558981
ClinVar Variation:
471285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg767His
CA1706135
NM_001130984.2:c.2300G>A